Canonical Allele Identifier: CA1955123723
Gene: ABCC8 HGNC NCBI

Linked Data

dbSNP Id: rs1953940318

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396594dup , CM000673.2:g.17396594dup GRCh38
NC_000011.9:g.17418141dup , CM000673.1:g.17418141dup GRCh37
NC_000011.8:g.17374717dup NCBI36
NG_008867.1:g.85312dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3720+325dup
ENST00000528374.2:c.710+325dup
ENST00000529967.6:n.2458+325dup
ENST00000532220.2:n.2692dup
ENST00000642611.2:n.4659dup
ENST00000644057.2:n.562+325dup
ENST00000645004.2:n.1618+325dup
ENST00000682051.1:n.4281+325dup
ENST00000682110.1:n.4334+325dup
ENST00000682140.1:c.3985+602dup ENSP00000507829.1:n.3985+602dup
ENST00000682185.1:n.5424+325dup
ENST00000682204.1:c.*2257+325dup ENSP00000507094.1:n.*2257+325dup
ENST00000682215.1:n.4701+325dup
ENST00000682288.1:c.*2550+325dup ENSP00000507506.1:n.*2550+325dup
ENST00000682442.1:n.4554+325dup
ENST00000682528.1:n.4411+325dup
ENST00000682673.1:n.4278+325dup
ENST00000682805.1:n.4739+287dup
ENST00000682965.1:c.*541+325dup ENSP00000508229.1:n.*541+325dup
ENST00000683093.1:n.4758dup
ENST00000683136.1:c.4002+325dup ENSP00000507768.1:n.4002+325dup
ENST00000683153.1:n.4376+325dup
ENST00000683365.1:n.4436+325dup
ENST00000683377.1:n.4334+325dup
ENST00000683456.1:c.*1256+325dup ENSP00000508318.1:n.*1256+325dup
ENST00000683522.1:n.4334+325dup
ENST00000683562.1:c.*2288+325dup ENSP00000508265.1:n.*2288+325dup
ENST00000683693.1:n.5106dup
ENST00000683725.1:c.4119+325dup ENSP00000507496.1:n.4119+325dup
ENST00000684010.1:n.4329+325dup
ENST00000684157.1:n.4659dup
ENST00000684253.1:n.4237+325dup
ENST00000684288.1:c.*2291+325dup ENSP00000507143.1:n.*2291+325dup
ENST00000684313.1:n.3766+325dup
ENST00000684332.1:n.4407+325dup
ENST00000684371.1:n.4440+325dup
ENST00000684404.1:n.4702dup
ENST00000684442.1:n.4558+325dup
ENST00000684555.1:c.*2331+325dup ENSP00000507705.1:n.*2331+325dup
ENST00000684571.1:c.3960+325dup ENSP00000506935.1:n.3960+325dup
ENST00000684593.1:c.*3824+325dup ENSP00000507005.1:n.*3824+325dup
ENST00000684711.1:c.*2515+325dup ENSP00000506841.1:n.*2515+325dup
ENST00000302539.9:c.4122+325dup ENSP00000303960.4:n.4122+325dup
ENST00000389817.8:c.4119+325dup MANE Select ENSP00000374467.4:n.4119+325dup
ENST00000642271.1:c.4116+325dup ENSP00000493749.1:n.4116+325dup
ENST00000642579.1:c.2173+325dup
ENST00000642611.1:n.4544dup
ENST00000642902.1:c.3901+325dup
ENST00000643260.1:c.4119+325dup ENSP00000494450.1:n.4119+325dup
ENST00000643562.1:c.*2241+325dup ENSP00000496124.1:n.*2241+325dup
ENST00000643925.1:c.2759+325dup
ENST00000644057.1:n.196+325dup
ENST00000644484.1:c.*2845dup ENSP00000493558.1:n.*2845dup
ENST00000644675.1:c.*2291+325dup ENSP00000494567.1:n.*2291+325dup
ENST00000644757.1:c.*2875dup ENSP00000495085.1:n.*2875dup
ENST00000644772.1:c.4185+325dup ENSP00000494321.1:n.4185+325dup
ENST00000645004.1:n.1812+287dup
ENST00000645076.1:c.3318+325dup
ENST00000645417.1:c.1307+325dup
ENST00000645744.1:c.*3224dup ENSP00000494564.1:n.*3224dup
ENST00000645760.1:c.4540+325dup
ENST00000645884.1:c.*1402+325dup ENSP00000495516.1:n.*1402+325dup
ENST00000646003.1:c.*2221+325dup ENSP00000495259.1:n.*2221+325dup
ENST00000646207.1:c.*2956+325dup ENSP00000495025.1:n.*2956+325dup
ENST00000646276.1:c.*2863dup ENSP00000496070.1:n.*2863dup
ENST00000646592.1:c.3425+325dup
ENST00000646902.1:c.4086+325dup ENSP00000494101.1:n.4086+325dup
ENST00000646993.1:c.*2661+325dup ENSP00000493720.1:n.*2661+325dup
ENST00000647013.1:c.4125+325dup ENSP00000496741.1:n.4125+325dup
ENST00000647015.1:c.3870+325dup ENSP00000495389.1:n.3870+325dup
ENST00000647086.1:c.*3705+325dup ENSP00000493677.1:n.*3705+325dup
ENST00000647158.1:c.*2406+325dup ENSP00000495744.1:n.*2406+325dup
ENST00000302539.8:c.4122+325dup ENSP00000303960.4:n.4122+325dup
ENST00000389817.7:c.4119+325dup ENSP00000374467.3:n.4119+325dup
ENST00000528374.1:c.601+325dup
ENST00000532220.1:n.593+325dup
NM_000352.4:c.4119+325dup NP_000343.2:n.4119+325dup
NM_001287174.1:c.4122+325dup NP_001274103.1:n.4122+325dup
XM_011520331.1:c.4119+325dup XP_011518633.1:n.4119+325dup
XM_011520332.1:c.4122+325dup XP_011518634.1:n.4122+325dup
XM_011520333.1:c.2619+325dup XP_011518635.1:n.2619+325dup
XR_930890.1:n.4185+325dup
NM_001351295.1:c.4185+325dup NP_001338224.1:n.4185+325dup
NM_001351296.1:c.4119+325dup NP_001338225.1:n.4119+325dup
NM_001351297.1:c.4116+325dup NP_001338226.1:n.4116+325dup
NR_147094.1:n.4414+325dup
XM_017018197.2:c.4188+325dup XP_016873686.1:n.4188+325dup
XM_017018199.1:c.4185+325dup XP_016873688.1:n.4185+325dup
XM_017018201.2:c.4188+325dup XP_016873690.1:n.4188+325dup
XM_017018202.1:c.2685+325dup XP_016873691.1:n.2685+325dup
XM_017018204.1:c.2076+325dup XP_016873693.1:n.2076+325dup
XM_024448668.1:c.2487+325dup XP_024304436.1:n.2487+325dup
XR_001747945.2:n.4260+325dup
XR_001747946.2:n.4191+325dup
XR_002957189.1:n.5181dup
NM_000352.6:c.4119+325dup MANE Select NP_000343.2:n.4119+325dup
NM_001287174.2:c.4122+325dup NP_001274103.1:n.4122+325dup
NM_001351295.2:c.4185+325dup NP_001338224.1:n.4185+325dup
NM_001351296.2:c.4119+325dup NP_001338225.1:n.4119+325dup
NM_001351297.2:c.4116+325dup NP_001338226.1:n.4116+325dup
NR_147094.2:n.4414+325dup
NM_001287174.3:c.4122+325dup NP_001274103.1:n.4122+325dup